Variant report

Variant	rs945311
Chromosome Location	chr14:70150910-70150911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70149467..70151102-chr14:70156172..70158882,2	MCF-7	breast:
2	chr14:70135430..70139006-chr14:70149542..70153148,4	MCF-7	breast:
3	chr14:70149459..70151433-chr14:70153411..70154973,2	MCF-7	breast:
4	chr14:70141485..70143505-chr14:70148882..70151101,2	K562	blood:
5	chr14:70145323..70149322-chr14:70149877..70152985,4	MCF-7	breast:
6	chr14:70145783..70147481-chr14:70150839..70153157,2	K562	blood:
7	chr14:70066908..70070424-chr14:70149586..70152707,3	MCF-7	breast:
8	chr14:70109436..70111234-chr14:70149871..70151669,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1109652	0.87[ASN][1000 genomes]
rs12435686	0.89[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12589913	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1275749	0.83[YRI][hapmap]
rs1275828	0.83[CHB][hapmap]
rs12895185	0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2152373	0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2224541	0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899308	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902747	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573902	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146578	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs8008410	0.87[ASN][1000 genomes]
rs875424	0.89[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs943275	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70140600-70152200	Weak transcription	NHLF	lung
4	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
5	chr14:70144400-70151400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:70146600-70151400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:70146600-70153200	Enhancers	Colon Smooth Muscle	Colon
8	chr14:70146800-70151000	Enhancers	Primary hematopoietic stem cells	blood
9	chr14:70146800-70152400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:70146800-70153200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr14:70146800-70153600	Enhancers	Fetal Muscle Leg	muscle
12	chr14:70146800-70153800	Enhancers	Brain Anterior Caudate	brain
13	chr14:70146800-70155600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:70147000-70152800	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:70147000-70153000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:70147000-70153200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:70147200-70152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:70147200-70152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:70147400-70151800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:70147600-70151400	Weak transcription	Aorta	Aorta
21	chr14:70147600-70152200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:70148200-70152800	Enhancers	Left Ventricle	heart
23	chr14:70148200-70152800	Enhancers	Spleen	Spleen
24	chr14:70148200-70153000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:70148400-70152400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:70148400-70152800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:70148400-70156800	Enhancers	HepG2	liver
28	chr14:70148600-70151000	Enhancers	Primary T cells from cord blood	blood
29	chr14:70148600-70152200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr14:70148600-70152600	Enhancers	Stomach Mucosa	stomach
31	chr14:70148600-70153000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:70148600-70153000	Enhancers	Psoas Muscle	Psoas
33	chr14:70148600-70153000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr14:70148600-70155800	Enhancers	Fetal Thymus	thymus
35	chr14:70148800-70151800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:70148800-70152200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:70148800-70152400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:70148800-70152400	Enhancers	Stomach Smooth Muscle	stomach
39	chr14:70148800-70152800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:70148800-70152800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:70148800-70153000	Enhancers	Small Intestine	intestine
42	chr14:70148800-70153200	Enhancers	Brain Angular Gyrus	brain
43	chr14:70148800-70153600	Enhancers	Brain Substantia Nigra	brain
44	chr14:70148800-70156600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr14:70149000-70151400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:70149000-70152400	Enhancers	HMEC	breast
47	chr14:70149000-70152800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:70149000-70152800	Enhancers	Duodenum Mucosa	Duodenum
49	chr14:70149000-70152800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr14:70149000-70153200	Enhancers	Adipose Nuclei	Adipose

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